Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.74377949_74377975delCA2659677533DCTN1c.279+31_279+57del (n.279+31_279+57del)
c.228+31_228+57del (n.228+31_228+57del)
c.291+31_291+57del (n.291+31_291+57del)
c.300+31_300+57del (n.300+31_300+57del)
n.540+31_540+57del
n.319+31_319+57del
 gnomAD v4
2g.74377952_74377972delinsGACAGACATGTGCACACATGCCA1261398897DCTN1c.279+28_279+48delinsGCATGTGTGCACATGTCTGTC (n.279+28_279+48delinsGCATGTGTGCACATGTCTGTC)
c.228+28_228+48delinsGCATGTGTGCACATGTCTGTC (n.228+28_228+48delinsGCATGTGTGCACATGTCTGTC)
c.291+28_291+48delinsGCATGTGTGCACATGTCTGTC (n.291+28_291+48delinsGCATGTGTGCACATGTCTGTC)
c.300+28_300+48delinsGCATGTGTGCACATGTCTGTC (n.300+28_300+48delinsGCATGTGTGCACATGTCTGTC)
n.540+28_540+48delinsGCATGTGTGCACATGTCTGTC
n.319+28_319+48delinsGCATGTGTGCACATGTCTGTC
2g.74377960_74377979delCA1722571DCTN1c.279+28_279+47del (n.279+28_279+47del)
c.228+28_228+47del (n.228+28_228+47del)
c.291+28_291+47del (n.291+28_291+47del)
c.300+28_300+47del (n.300+28_300+47del)
n.540+28_540+47del
n.319+28_319+47del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377959_74377970delinsATGTGCACACATCA1261398901DCTN1c.279+30_279+41delinsATGTGTGCACAT (n.279+30_279+41delinsATGTGTGCACAT)
c.228+30_228+41delinsATGTGTGCACAT (n.228+30_228+41delinsATGTGTGCACAT)
c.291+30_291+41delinsATGTGTGCACAT (n.291+30_291+41delinsATGTGTGCACAT)
c.300+30_300+41delinsATGTGTGCACAT (n.300+30_300+41delinsATGTGTGCACAT)
n.540+30_540+41delinsATGTGTGCACAT
n.319+30_319+41delinsATGTGTGCACAT
2g.74377960_74377970delCA892924069DCTN1c.279+30_279+40del (n.279+30_279+40del)
c.228+30_228+40del (n.228+30_228+40del)
c.291+30_291+40del (n.291+30_291+40del)
c.300+30_300+40del (n.300+30_300+40del)
n.540+30_540+40del
n.319+30_319+40del
 dbSNP gnomAD v3 gnomAD v4
2g.74377967A=CA1261398906DCTN1c.279+33T= (n.279+33T=)
c.228+33T= (n.228+33T=)
c.291+33T= (n.291+33T=)
c.300+33T= (n.300+33T=)
n.540+33T=
n.319+33T=
2g.74377967A>GCA1261398907DCTN1c.279+33T>C (n.279+33T>C)
c.228+33T>C (n.228+33T>C)
c.291+33T>C (n.291+33T>C)
c.300+33T>C (n.300+33T>C)
n.540+33T>C
n.319+33T>C
 dbSNP gnomAD v4
2g.74377968C>ACA892924078DCTN1c.279+32G>T (n.279+32G>T)
c.228+32G>T (n.228+32G>T)
c.291+32G>T (n.291+32G>T)
c.300+32G>T (n.300+32G>T)
n.540+32G>T
n.319+32G>T
 dbSNP gnomAD v3 gnomAD v4
2g.74377968C=CA1261398908DCTN1c.279+32G= (n.279+32G=)
c.228+32G= (n.228+32G=)
c.291+32G= (n.291+32G=)
c.300+32G= (n.300+32G=)
n.540+32G=
n.319+32G=
2g.74377968C>TCA534127248DCTN1c.279+32G>A (n.279+32G>A)
c.228+32G>A (n.228+32G>A)
c.291+32G>A (n.291+32G>A)
c.300+32G>A (n.300+32G>A)
n.540+32G>A
n.319+32G>A
 dbSNP gnomAD v2
2g.74377969A>GCA2577009375DCTN1c.279+31T>C (n.279+31T>C)
c.228+31T>C (n.228+31T>C)
c.291+31T>C (n.291+31T>C)
c.300+31T>C (n.300+31T>C)
n.540+31T>C
n.319+31T>C
2g.74377970T>CCA534127249DCTN1c.279+30A>G (n.279+30A>G)
c.228+30A>G (n.228+30A>G)
c.291+30A>G (n.291+30A>G)
c.300+30A>G (n.300+30A>G)
n.540+30A>G
n.319+30A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74377970T=CA1261398909DCTN1c.279+30A= (n.279+30A=)
c.228+30A= (n.228+30A=)
c.291+30A= (n.291+30A=)
c.300+30A= (n.300+30A=)
n.540+30A=
n.319+30A=
2g.74377971G>ACA1722577DCTN1c.279+29C>T (n.279+29C>T)
c.228+29C>T (n.228+29C>T)
c.291+29C>T (n.291+29C>T)
c.300+29C>T (n.300+29C>T)
n.540+29C>T
n.319+29C>T
 dbSNP ExAC gnomAD v2
2g.74377971G=CA1261398910DCTN1c.279+29C= (n.279+29C=)
c.228+29C= (n.228+29C=)
c.291+29C= (n.291+29C=)
c.300+29C= (n.300+29C=)
n.540+29C=
n.319+29C=
2g.74377971dupCA1722576DCTN1c.279+29dup (n.279+29dup)
c.228+29dup (n.228+29dup)
c.291+29dup (n.291+29dup)
c.300+29dup (n.300+29dup)
n.540+29dup
n.319+29dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377971_74377973delinsGCACA1261398911DCTN1c.279+27_279+29delinsTGC (n.279+27_279+29delinsTGC)
c.228+27_228+29delinsTGC (n.228+27_228+29delinsTGC)
c.291+27_291+29delinsTGC (n.291+27_291+29delinsTGC)
c.300+27_300+29delinsTGC (n.300+27_300+29delinsTGC)
n.540+27_540+29delinsTGC
n.319+27_319+29delinsTGC
2g.74377972C=CA1261398913DCTN1c.279+28G= (n.279+28G=)
c.228+28G= (n.228+28G=)
c.291+28G= (n.291+28G=)
c.300+28G= (n.300+28G=)
n.540+28G=
n.319+28G=
2g.74377972C>TCA1261398912DCTN1c.279+28G>A (n.279+28G>A)
c.228+28G>A (n.228+28G>A)
c.291+28G>A (n.291+28G>A)
c.300+28G>A (n.300+28G>A)
n.540+28G>A
n.319+28G>A
 dbSNP
2g.74377974_74377975delCA1722578DCTN1c.279+27_279+28del (n.279+27_279+28del)
c.228+27_228+28del (n.228+27_228+28del)
c.291+27_291+28del (n.291+27_291+28del)
c.300+27_300+28del (n.300+27_300+28del)
n.540+27_540+28del
n.319+27_319+28del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377972_74377973insGCA892924084DCTN1c.279+27_279+28insC (n.279+27_279+28insC)
c.228+27_228+28insC (n.228+27_228+28insC)
c.291+27_291+28insC (n.291+27_291+28insC)
c.300+27_300+28insC (n.300+27_300+28insC)
n.540+27_540+28insC
n.319+27_319+28insC
 dbSNP gnomAD v4
2g.74377974C=CA1261398914DCTN1c.279+26G= (n.279+26G=)
c.228+26G= (n.228+26G=)
c.291+26G= (n.291+26G=)
c.300+26G= (n.300+26G=)
n.540+26G=
n.319+26G=
2g.74377974C>GCA1722579DCTN1c.279+26G>C (n.279+26G>C)
c.228+26G>C (n.228+26G>C)
c.291+26G>C (n.291+26G>C)
c.300+26G>C (n.300+26G>C)
n.540+26G>C
n.319+26G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.74377974C>TCA892924086DCTN1c.279+26G>A (n.279+26G>A)
c.228+26G>A (n.228+26G>A)
c.291+26G>A (n.291+26G>A)
c.300+26G>A (n.300+26G>A)
n.540+26G>A
n.319+26G>A
 dbSNP gnomAD v3 gnomAD v4
2g.74377975A=CA1261398915DCTN1c.279+25T= (n.279+25T=)
c.228+25T= (n.228+25T=)
c.291+25T= (n.291+25T=)
c.300+25T= (n.300+25T=)
n.540+25T=
n.319+25T=
2g.74377975A>GCA534127250DCTN1c.279+25T>C (n.279+25T>C)
c.228+25T>C (n.228+25T>C)
c.291+25T>C (n.291+25T>C)
c.300+25T>C (n.300+25T>C)
n.540+25T>C
n.319+25T>C
 dbSNP gnomAD v2 gnomAD v4
2g.74377976G>ACA2699495416DCTN1c.279+24C>T (n.279+24C>T)
c.228+24C>T (n.228+24C>T)
c.291+24C>T (n.291+24C>T)
c.300+24C>T (n.300+24C>T)
n.540+24C>T
n.319+24C>T
 dbSNP
2g.74377976G>TCA2659677597DCTN1c.279+24C>A (n.279+24C>A)
c.228+24C>A (n.228+24C>A)
c.291+24C>A (n.291+24C>A)
c.300+24C>A (n.300+24C>A)
n.540+24C>A
n.319+24C>A
 gnomAD v4
2g.74377980C>ACA1722580DCTN1c.279+20G>T (n.279+20G>T)
c.228+20G>T (n.228+20G>T)
c.291+20G>T (n.291+20G>T)
c.300+20G>T (n.300+20G>T)
n.540+20G>T
n.319+20G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377980C=CA1261398916DCTN1c.279+20G= (n.279+20G=)
c.228+20G= (n.228+20G=)
c.291+20G= (n.291+20G=)
c.300+20G= (n.300+20G=)
n.540+20G=
n.319+20G=
2g.74377980C>TCA534127251DCTN1c.279+20G>A (n.279+20G>A)
c.228+20G>A (n.228+20G>A)
c.291+20G>A (n.291+20G>A)
c.300+20G>A (n.300+20G>A)
n.540+20G>A
n.319+20G>A
 dbSNP gnomAD v2 gnomAD v4
2g.74377981A>TCA2659677615DCTN1c.279+19T>A (n.279+19T>A)
c.228+19T>A (n.228+19T>A)
c.291+19T>A (n.291+19T>A)
c.300+19T>A (n.300+19T>A)
n.540+19T>A
n.319+19T>A
 gnomAD v4
2g.74377982_74377985delinsAAAGCA1261398917DCTN1c.279+15_279+18delinsCTTT (n.279+15_279+18delinsCTTT)
c.228+15_228+18delinsCTTT (n.228+15_228+18delinsCTTT)
c.291+15_291+18delinsCTTT (n.291+15_291+18delinsCTTT)
c.300+15_300+18delinsCTTT (n.300+15_300+18delinsCTTT)
n.540+15_540+18delinsCTTT
n.319+15_319+18delinsCTTT
2g.74377986_74377988delCA1722581DCTN1c.279+15_279+17del (n.279+15_279+17del)
c.228+15_228+17del (n.228+15_228+17del)
c.291+15_291+17del (n.291+15_291+17del)
c.300+15_300+17del (n.300+15_300+17del)
n.540+15_540+17del
n.319+15_319+17del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377985G>CCA2577009376DCTN1c.279+15C>G (n.279+15C>G)
c.228+15C>G (n.228+15C>G)
c.291+15C>G (n.291+15C>G)
c.300+15C>G (n.300+15C>G)
n.540+15C>G
n.319+15C>G
 gnomAD v4
2g.74377986A>GCA2659677617DCTN1c.279+14T>C (n.279+14T>C)
c.228+14T>C (n.228+14T>C)
c.291+14T>C (n.291+14T>C)
c.300+14T>C (n.300+14T>C)
n.540+14T>C
n.319+14T>C
 gnomAD v4
2g.74377987A=CA1261398918DCTN1c.279+13T= (n.279+13T=)
c.228+13T= (n.228+13T=)
c.291+13T= (n.291+13T=)
c.300+13T= (n.300+13T=)
n.540+13T=
n.319+13T=
2g.74377987A>GCA892924088DCTN1c.279+13T>C (n.279+13T>C)
c.228+13T>C (n.228+13T>C)
c.291+13T>C (n.291+13T>C)
c.300+13T>C (n.300+13T>C)
n.540+13T>C
n.319+13T>C
 dbSNP
2g.74377987A>TCA2750495310DCTN1c.279+13T>A (n.279+13T>A)
c.228+13T>A (n.228+13T>A)
c.291+13T>A (n.291+13T>A)
c.300+13T>A (n.300+13T>A)
n.540+13T>A
n.319+13T>A
2g.74377988G>ACA1722582DCTN1c.279+12C>T (n.279+12C>T)
c.228+12C>T (n.228+12C>T)
c.291+12C>T (n.291+12C>T)
c.300+12C>T (n.300+12C>T)
n.540+12C>T
n.319+12C>T
 dbSNP ExAC
2g.74377988G=CA1261398919DCTN1c.279+12C= (n.279+12C=)
c.228+12C= (n.228+12C=)
c.291+12C= (n.291+12C=)
c.300+12C= (n.300+12C=)
n.540+12C=
n.319+12C=
2g.74377989G>ACA1722583DCTN1c.279+11C>T (n.279+11C>T)
c.228+11C>T (n.228+11C>T)
c.291+11C>T (n.291+11C>T)
c.300+11C>T (n.300+11C>T)
n.540+11C>T
n.319+11C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377989G=CA1261398920DCTN1c.279+11C= (n.279+11C=)
c.228+11C= (n.228+11C=)
c.291+11C= (n.291+11C=)
c.300+11C= (n.300+11C=)
n.540+11C=
n.319+11C=
2g.74377989G>TCA50440058DCTN1c.279+11C>A (n.279+11C>A)
c.228+11C>A (n.228+11C>A)
c.291+11C>A (n.291+11C>A)
c.300+11C>A (n.300+11C>A)
n.540+11C>A
n.319+11C>A
 ClinVar dbSNP
2g.74377990G>ACA892924091DCTN1c.279+10C>T (n.279+10C>T)
c.228+10C>T (n.228+10C>T)
c.291+10C>T (n.291+10C>T)
c.300+10C>T (n.300+10C>T)
n.540+10C>T
n.319+10C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.74377990G=CA1261398921DCTN1c.279+10C= (n.279+10C=)
c.228+10C= (n.228+10C=)
c.291+10C= (n.291+10C=)
c.300+10C= (n.300+10C=)
n.540+10C=
n.319+10C=
2g.74377991C=CA1261398922DCTN1c.279+9G= (n.279+9G=)
c.228+9G= (n.228+9G=)
c.291+9G= (n.291+9G=)
c.300+9G= (n.300+9G=)
n.540+9G=
n.319+9G=
2g.74377991C>TCA1722584DCTN1c.279+9G>A (n.279+9G>A)
c.228+9G>A (n.228+9G>A)
c.291+9G>A (n.291+9G>A)
c.300+9G>A (n.300+9G>A)
n.540+9G>A
n.319+9G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377992G>ACA1722585DCTN1c.279+8C>T (n.279+8C>T)
c.228+8C>T (n.228+8C>T)
c.291+8C>T (n.291+8C>T)
c.300+8C>T (n.300+8C>T)
n.540+8C>T
n.319+8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377992G=CA1261398923DCTN1c.279+8C= (n.279+8C=)
c.228+8C= (n.228+8C=)
c.291+8C= (n.291+8C=)
c.300+8C= (n.300+8C=)
n.540+8C=
n.319+8C=
2g.74377994G>CCA1722586DCTN1c.279+6C>G (n.279+6C>G)
c.228+6C>G (n.228+6C>G)
c.291+6C>G (n.291+6C>G)
c.300+6C>G (n.300+6C>G)
n.540+6C>G
n.319+6C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74377994G=CA1261398924DCTN1c.279+6C= (n.279+6C=)
c.228+6C= (n.228+6C=)
c.291+6C= (n.291+6C=)
c.300+6C= (n.300+6C=)
n.540+6C=
n.319+6C=
2g.74377995A=CA1261398925DCTN1c.279+5T= (n.279+5T=)
c.228+5T= (n.228+5T=)
c.291+5T= (n.291+5T=)
c.300+5T= (n.300+5T=)
n.540+5T=
n.319+5T=
2g.74377995A>CCA2577009377DCTN1c.279+5T>G (n.279+5T>G)
c.228+5T>G (n.228+5T>G)
c.291+5T>G (n.291+5T>G)
c.300+5T>G (n.300+5T>G)
n.540+5T>G
n.319+5T>G
 gnomAD v4
2g.74377995A>GCA892924098DCTN1c.279+5T>C (n.279+5T>C)
c.228+5T>C (n.228+5T>C)
c.291+5T>C (n.291+5T>C)
c.300+5T>C (n.300+5T>C)
n.540+5T>C
n.319+5T>C
 dbSNP
2g.74377996A>CCA2577009378DCTN1c.279+4T>G (n.279+4T>G)
c.228+4T>G (n.228+4T>G)
c.291+4T>G (n.291+4T>G)
c.300+4T>G (n.300+4T>G)
n.540+4T>G
n.319+4T>G
 gnomAD v4
2g.74377998A=CA1261398926DCTN1c.279+2T= (n.279+2T=)
c.228+2T= (n.228+2T=)
c.291+2T= (n.291+2T=)
c.300+2T= (n.300+2T=)
n.540+2T=
n.319+2T=
2g.74377998A>CCA347321482DCTN1c.279+2T>G (n.279+2T>G)
c.228+2T>G (n.228+2T>G)
c.291+2T>G (n.291+2T>G)
c.300+2T>G (n.300+2T>G)
n.540+2T>G
n.319+2T>G
2g.74377998A>GCA347321483DCTN1c.279+2T>C (n.279+2T>C)
c.228+2T>C (n.228+2T>C)
c.291+2T>C (n.291+2T>C)
c.300+2T>C (n.300+2T>C)
n.540+2T>C
n.319+2T>C
 ClinVar dbSNP
2g.74377998A>TCA347321484DCTN1c.279+2T>A (n.279+2T>A)
c.228+2T>A (n.228+2T>A)
c.291+2T>A (n.291+2T>A)
c.300+2T>A (n.300+2T>A)
n.540+2T>A
n.319+2T>A
2g.74377999C>ACA347321486DCTN1c.279+1G>T (n.279+1G>T)
c.228+1G>T (n.228+1G>T)
c.291+1G>T (n.291+1G>T)
c.300+1G>T (n.300+1G>T)
n.540+1G>T
n.319+1G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.74377999C=CA1261398927DCTN1c.279+1G= (n.279+1G=)
c.228+1G= (n.228+1G=)
c.291+1G= (n.291+1G=)
c.300+1G= (n.300+1G=)
n.540+1G=
n.319+1G=
2g.74377999C>GCA347321489DCTN1c.279+1G>C (n.279+1G>C)
c.228+1G>C (n.228+1G>C)
c.291+1G>C (n.291+1G>C)
c.300+1G>C (n.300+1G>C)
n.540+1G>C
n.319+1G>C
 ClinVar dbSNP
2g.74377999C>TCA347321491DCTN1c.279+1G>A (n.279+1G>A)
c.228+1G>A (n.228+1G>A)
c.291+1G>A (n.291+1G>A)
c.300+1G>A (n.300+1G>A)
n.540+1G>A
n.319+1G>A
 ClinVar dbSNP
2g.74378000C>ACA347321494DCTN1c.279G>T (p.Gln93His)
c.228G>T (p.Gln76His)
c.291G>T (p.Gln97His)
c.300G>T (p.Gln100His)
n.540G>T
n.319G>T
2g.74378000C=CA1261398928DCTN1c.279G= (p.Gln93=)
c.228G= (p.Gln76=)
c.291G= (p.Gln97=)
c.300G= (p.Gln100=)
n.540G=
n.319G=
2g.74378000C>GCA347321496DCTN1c.279G>C (p.Gln93His)
c.228G>C (p.Gln76His)
c.291G>C (p.Gln97His)
c.300G>C (p.Gln100His)
n.540G>C
n.319G>C
 ClinVar
2g.74378000C>TCA426813908DCTN1c.279G>A (p.Gln93=)
c.228G>A (p.Gln76=)
c.291G>A (p.Gln97=)
c.300G>A (p.Gln100=)
n.540G>A
n.319G>A
 ClinVar dbSNP
2g.74378001T>ACA347321499DCTN1c.278A>T (p.Gln93Leu)
c.227A>T (p.Gln76Leu)
c.290A>T (p.Gln97Leu)
c.299A>T (p.Gln100Leu)
n.539A>T
n.318A>T
2g.74378001T>CCA347321501DCTN1c.278A>G (p.Gln93Arg)
c.227A>G (p.Gln76Arg)
c.290A>G (p.Gln97Arg)
c.299A>G (p.Gln100Arg)
n.539A>G
n.318A>G
2g.74378001T>GCA347321503DCTN1c.278A>C (p.Gln93Pro)
c.227A>C (p.Gln76Pro)
c.290A>C (p.Gln97Pro)
c.299A>C (p.Gln100Pro)
n.539A>C
n.318A>C
 gnomAD v4
2g.74378002G>ACA347321506DCTN1c.277C>T (p.Gln93Ter)
c.226C>T (p.Gln76Ter)
c.289C>T (p.Gln97Ter)
c.298C>T (p.Gln100Ter)
n.538C>T
n.317C>T
 dbSNP
2g.74378002G>CCA347321504DCTN1c.277C>G (p.Gln93Glu)
c.226C>G (p.Gln76Glu)
c.289C>G (p.Gln97Glu)
c.298C>G (p.Gln100Glu)
n.538C>G
n.317C>G
2g.74378002G>TCA347321505DCTN1c.277C>A (p.Gln93Lys)
c.226C>A (p.Gln76Lys)
c.289C>A (p.Gln97Lys)
c.298C>A (p.Gln100Lys)
n.538C>A
n.317C>A
2g.74378003G>ACA426813909DCTN1c.276C>T (p.Ser92=)
c.225C>T (p.Ser75=)
c.288C>T (p.Ser96=)
c.297C>T (p.Ser99=)
n.537C>T
n.316C>T
 dbSNP
2g.74378003G>CCA426813910DCTN1c.276C>G (p.Ser92=)
c.225C>G (p.Ser75=)
c.288C>G (p.Ser96=)
c.297C>G (p.Ser99=)
n.537C>G
n.316C>G
2g.74378003G>TCA426813911DCTN1c.276C>A (p.Ser92=)
c.225C>A (p.Ser75=)
c.288C>A (p.Ser96=)
c.297C>A (p.Ser99=)
n.537C>A
n.316C>A
2g.74378004G>ACA347321507DCTN1c.275C>T (p.Ser92Phe)
c.224C>T (p.Ser75Phe)
c.287C>T (p.Ser96Phe)
c.296C>T (p.Ser99Phe)
n.536C>T
n.315C>T
2g.74378004G>CCA347321508DCTN1c.275C>G (p.Ser92Cys)
c.224C>G (p.Ser75Cys)
c.287C>G (p.Ser96Cys)
c.296C>G (p.Ser99Cys)
n.536C>G
n.315C>G
2g.74378004G>TCA347321509DCTN1c.275C>A (p.Ser92Tyr)
c.224C>A (p.Ser75Tyr)
c.287C>A (p.Ser96Tyr)
c.296C>A (p.Ser99Tyr)
n.536C>A
n.315C>A
2g.74378005A>CCA347321512DCTN1c.274T>G (p.Ser92Ala)
c.223T>G (p.Ser75Ala)
c.286T>G (p.Ser96Ala)
c.295T>G (p.Ser99Ala)
n.535T>G
n.314T>G
2g.74378005A>GCA347321514DCTN1c.274T>C (p.Ser92Pro)
c.223T>C (p.Ser75Pro)
c.286T>C (p.Ser96Pro)
c.295T>C (p.Ser99Pro)
n.535T>C
n.314T>C
2g.74378005A>TCA347321516DCTN1c.274T>A (p.Ser92Thr)
c.223T>A (p.Ser75Thr)
c.286T>A (p.Ser96Thr)
c.295T>A (p.Ser99Thr)
n.535T>A
n.314T>A
2g.74378006C>ACA347321518DCTN1c.273G>T (p.Gln91His)
c.222G>T (p.Gln74His)
c.285G>T (p.Gln95His)
c.294G>T (p.Gln98His)
n.534G>T
n.313G>T
 dbSNP
2g.74378006C=CA1261398929DCTN1c.273G= (p.Gln91=)
c.222G= (p.Gln74=)
c.285G= (p.Gln95=)
c.294G= (p.Gln98=)
n.534G=
n.313G=
2g.74378006C>GCA347321519DCTN1c.273G>C (p.Gln91His)
c.222G>C (p.Gln74His)
c.285G>C (p.Gln95His)
c.294G>C (p.Gln98His)
n.534G>C
n.313G>C
 gnomAD v4
2g.74378006C>TCA426813912DCTN1c.273G>A (p.Gln91=)
c.222G>A (p.Gln74=)
c.285G>A (p.Gln95=)
c.294G>A (p.Gln98=)
n.534G>A
n.313G>A
2g.74378007T>ACA347321521DCTN1c.272A>T (p.Gln91Leu)
c.221A>T (p.Gln74Leu)
c.284A>T (p.Gln95Leu)
c.293A>T (p.Gln98Leu)
n.533A>T
n.312A>T
 gnomAD v4
2g.74378007T>CCA347321523DCTN1c.272A>G (p.Gln91Arg)
c.221A>G (p.Gln74Arg)
c.284A>G (p.Gln95Arg)
c.293A>G (p.Gln98Arg)
n.533A>G
n.312A>G
 gnomAD v4
2g.74378007T>GCA347321525DCTN1c.272A>C (p.Gln91Pro)
c.221A>C (p.Gln74Pro)
c.284A>C (p.Gln95Pro)
c.293A>C (p.Gln98Pro)
n.533A>C
n.312A>C
 dbSNP gnomAD v2
2g.74378007T=CA1261398930DCTN1c.272A= (p.Gln91=)
c.221A= (p.Gln74=)
c.284A= (p.Gln95=)
c.293A= (p.Gln98=)
n.533A=
n.312A=
2g.74378008G>ACA347321532DCTN1c.271C>T (p.Gln91Ter)
c.220C>T (p.Gln74Ter)
c.283C>T (p.Gln95Ter)
c.292C>T (p.Gln98Ter)
n.532C>T
n.311C>T
2g.74378008G>CCA347321529DCTN1c.271C>G (p.Gln91Glu)
c.220C>G (p.Gln74Glu)
c.283C>G (p.Gln95Glu)
c.292C>G (p.Gln98Glu)
n.532C>G
n.311C>G
2g.74378008G>TCA347321527DCTN1c.271C>A (p.Gln91Lys)
c.220C>A (p.Gln74Lys)
c.283C>A (p.Gln95Lys)
c.292C>A (p.Gln98Lys)
n.532C>A
n.311C>A
2g.74378009G>ACA426813916DCTN1c.270C>T (p.Arg90=)
c.219C>T (p.Arg73=)
c.282C>T (p.Arg94=)
c.291C>T (p.Arg97=)
n.531C>T
n.310C>T
 dbSNP gnomAD v4
2g.74378009G>CCA426813915DCTN1c.270C>G (p.Arg90=)
c.219C>G (p.Arg73=)
c.282C>G (p.Arg94=)
c.291C>G (p.Arg97=)
n.531C>G
n.310C>G
2g.74378009G=CA1261398931DCTN1c.270C= (p.Arg90=)
c.219C= (p.Arg73=)
c.282C= (p.Arg94=)
c.291C= (p.Arg97=)
n.531C=
n.310C=
2g.74378009G>TCA426813913DCTN1c.270C>A (p.Arg90=)
c.219C>A (p.Arg73=)
c.282C>A (p.Arg94=)
c.291C>A (p.Arg97=)
n.531C>A
n.310C>A
2g.74378010C>ACA347321534DCTN1c.269G>T (p.Arg90Leu)
c.218G>T (p.Arg73Leu)
c.281G>T (p.Arg94Leu)
c.290G>T (p.Arg97Leu)
n.530G>T
n.309G>T
2g.74378010C=CA1261398932DCTN1c.269G= (p.Arg90=)
c.218G= (p.Arg73=)
c.281G= (p.Arg94=)
c.290G= (p.Arg97=)
n.530G=
n.309G=
2g.74378010C>GCA347321536DCTN1c.269G>C (p.Arg90Pro)
c.218G>C (p.Arg73Pro)
c.281G>C (p.Arg94Pro)
c.290G>C (p.Arg97Pro)
n.530G>C
n.309G>C
2g.74378010C>TCA347321539DCTN1c.269G>A (p.Arg90His)
c.218G>A (p.Arg73His)
c.281G>A (p.Arg94His)
c.290G>A (p.Arg97His)
n.530G>A
n.309G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74378011G>ACA347321541DCTN1c.268C>T (p.Arg90Cys)
c.217C>T (p.Arg73Cys)
c.280C>T (p.Arg94Cys)
c.289C>T (p.Arg97Cys)
n.529C>T
n.308C>T
 gnomAD v4 COSMIC
2g.74378011G>CCA347321542DCTN1c.268C>G (p.Arg90Gly)
c.217C>G (p.Arg73Gly)
c.280C>G (p.Arg94Gly)
c.289C>G (p.Arg97Gly)
n.529C>G
n.308C>G
2g.74378011G>TCA347321543DCTN1c.268C>A (p.Arg90Ser)
c.217C>A (p.Arg73Ser)
c.280C>A (p.Arg94Ser)
c.289C>A (p.Arg97Ser)
n.529C>A
n.308C>A
2g.74378012C>ACA426813920DCTN1c.267G>T (p.Val89=)
c.216G>T (p.Val72=)
c.279G>T (p.Val93=)
c.288G>T (p.Val96=)
n.528G>T
n.307G>T
2g.74378012C>GCA426813921DCTN1c.267G>C (p.Val89=)
c.216G>C (p.Val72=)
c.279G>C (p.Val93=)
c.288G>C (p.Val96=)
n.528G>C
n.307G>C
2g.74378012C>TCA426813922DCTN1c.267G>A (p.Val89=)
c.216G>A (p.Val72=)
c.279G>A (p.Val93=)
c.288G>A (p.Val96=)
n.528G>A
n.307G>A
 gnomAD v3 gnomAD v4
2g.74378013A>CCA347321546DCTN1c.266T>G (p.Val89Gly)
c.215T>G (p.Val72Gly)
c.278T>G (p.Val93Gly)
c.287T>G (p.Val96Gly)
n.527T>G
n.306T>G
2g.74378013A>GCA347321544DCTN1c.266T>C (p.Val89Ala)
c.215T>C (p.Val72Ala)
c.278T>C (p.Val93Ala)
c.287T>C (p.Val96Ala)
n.527T>C
n.306T>C
2g.74378013A>TCA347321545DCTN1c.266T>A (p.Val89Glu)
c.215T>A (p.Val72Glu)
c.278T>A (p.Val93Glu)
c.287T>A (p.Val96Glu)
n.527T>A
n.306T>A
2g.74378014C>ACA347321549DCTN1c.265G>T (p.Val89Leu)
c.214G>T (p.Val72Leu)
c.277G>T (p.Val93Leu)
c.286G>T (p.Val96Leu)
n.526G>T
n.305G>T
2g.74378014C>GCA347321550DCTN1c.265G>C (p.Val89Leu)
c.214G>C (p.Val72Leu)
c.277G>C (p.Val93Leu)
c.286G>C (p.Val96Leu)
n.526G>C
n.305G>C
2g.74378014C>TCA347321552DCTN1c.265G>A (p.Val89Met)
c.214G>A (p.Val72Met)
c.277G>A (p.Val93Met)
c.286G>A (p.Val96Met)
n.526G>A
n.305G>A
 gnomAD v4
2g.74378015A=CA1261398933DCTN1c.264T= (p.Phe88=)
c.213T= (p.Phe71=)
c.276T= (p.Phe92=)
c.285T= (p.Phe95=)
n.525T=
n.304T=
2g.74378015A>CCA347321555DCTN1c.264T>G (p.Phe88Leu)
c.213T>G (p.Phe71Leu)
c.276T>G (p.Phe92Leu)
c.285T>G (p.Phe95Leu)
n.525T>G
n.304T>G
2g.74378015A>GCA426813924DCTN1c.264T>C (p.Phe88=)
c.213T>C (p.Phe71=)
c.276T>C (p.Phe92=)
c.285T>C (p.Phe95=)
n.525T>C
n.304T>C
 dbSNP
2g.74378015A>TCA347321556DCTN1c.264T>A (p.Phe88Leu)
c.213T>A (p.Phe71Leu)
c.276T>A (p.Phe92Leu)
c.285T>A (p.Phe95Leu)
n.525T>A
n.304T>A
2g.74378016A>CCA347321558DCTN1c.263T>G (p.Phe88Cys)
c.212T>G (p.Phe71Cys)
c.275T>G (p.Phe92Cys)
c.284T>G (p.Phe95Cys)
n.524T>G
n.303T>G
2g.74378016A>GCA347321560DCTN1c.263T>C (p.Phe88Ser)
c.212T>C (p.Phe71Ser)
c.275T>C (p.Phe92Ser)
c.284T>C (p.Phe95Ser)
n.524T>C
n.303T>C
2g.74378016A>TCA347321559DCTN1c.263T>A (p.Phe88Tyr)
c.212T>A (p.Phe71Tyr)
c.275T>A (p.Phe92Tyr)
c.284T>A (p.Phe95Tyr)
n.524T>A
n.303T>A
2g.74378017A>CCA347321562DCTN1c.262T>G (p.Phe88Val)
c.211T>G (p.Phe71Val)
c.274T>G (p.Phe92Val)
c.283T>G (p.Phe95Val)
n.523T>G
n.302T>G
2g.74378017A>GCA347321564DCTN1c.262T>C (p.Phe88Leu)
c.211T>C (p.Phe71Leu)
c.274T>C (p.Phe92Leu)
c.283T>C (p.Phe95Leu)
n.523T>C
n.302T>C
2g.74378017A>TCA347321566DCTN1c.262T>A (p.Phe88Ile)
c.211T>A (p.Phe71Ile)
c.274T>A (p.Phe92Ile)
c.283T>A (p.Phe95Ile)
n.523T>A
n.302T>A
2g.74378018G>ACA426813925DCTN1c.261C>T (p.Ile87=)
c.210C>T (p.Ile70=)
c.273C>T (p.Ile91=)
c.282C>T (p.Ile94=)
n.522C>T
n.301C>T
 dbSNP gnomAD v3 gnomAD v4
2g.74378018G>CCA347321568DCTN1c.261C>G (p.Ile87Met)
c.210C>G (p.Ile70Met)
c.273C>G (p.Ile91Met)
c.282C>G (p.Ile94Met)
n.522C>G
n.301C>G
 gnomAD v4
2g.74378018G=CA1261398934DCTN1c.261C= (p.Ile87=)
c.210C= (p.Ile70=)
c.273C= (p.Ile91=)
c.282C= (p.Ile94=)
n.522C=
n.301C=
2g.74378018G>TCA426813926DCTN1c.261C>A (p.Ile87=)
c.210C>A (p.Ile70=)
c.273C>A (p.Ile91=)
c.282C>A (p.Ile94=)
n.522C>A
n.301C>A
2g.74378019A=CA1261398935DCTN1c.260T= (p.Ile87=)
c.209T= (p.Ile70=)
c.272T= (p.Ile91=)
c.281T= (p.Ile94=)
n.521T=
n.300T=
2g.74378019A>CCA347321570DCTN1c.260T>G (p.Ile87Ser)
c.209T>G (p.Ile70Ser)
c.272T>G (p.Ile91Ser)
c.281T>G (p.Ile94Ser)
n.521T>G
n.300T>G
2g.74378019A>GCA1722587DCTN1c.260T>C (p.Ile87Thr)
c.209T>C (p.Ile70Thr)
c.272T>C (p.Ile91Thr)
c.281T>C (p.Ile94Thr)
n.521T>C
n.300T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.74378019A>TCA347321572DCTN1c.260T>A (p.Ile87Asn)
c.209T>A (p.Ile70Asn)
c.272T>A (p.Ile91Asn)
c.281T>A (p.Ile94Asn)
n.521T>A
n.300T>A
2g.74378020T>ACA347321574DCTN1c.259A>T (p.Ile87Phe)
c.208A>T (p.Ile70Phe)
c.271A>T (p.Ile91Phe)
c.280A>T (p.Ile94Phe)
n.520A>T
n.299A>T
2g.74378020T>CCA50440081DCTN1c.259A>G (p.Ile87Val)
c.208A>G (p.Ile70Val)
c.271A>G (p.Ile91Val)
c.280A>G (p.Ile94Val)
n.520A>G
n.299A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74378020T>GCA347321577DCTN1c.259A>C (p.Ile87Leu)
c.208A>C (p.Ile70Leu)
c.271A>C (p.Ile91Leu)
c.280A>C (p.Ile94Leu)
n.520A>C
n.299A>C
2g.74378020T=CA1261398936DCTN1c.259A= (p.Ile87=)
c.208A= (p.Ile70=)
c.271A= (p.Ile91=)
c.280A= (p.Ile94=)
n.520A=
n.299A=
2g.74378021G>ACA1722588DCTN1c.258C>T (p.Gly86=)
c.207C>T (p.Gly69=)
c.270C>T (p.Gly90=)
c.279C>T (p.Gly93=)
n.519C>T
n.298C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.74378021G>CCA426813928DCTN1c.258C>G (p.Gly86=)
c.207C>G (p.Gly69=)
c.270C>G (p.Gly90=)
c.279C>G (p.Gly93=)
n.519C>G
n.298C>G
 dbSNP gnomAD v4
2g.74378021G=CA1261398937DCTN1c.258C= (p.Gly86=)
c.207C= (p.Gly69=)
c.270C= (p.Gly90=)
c.279C= (p.Gly93=)
n.519C=
n.298C=
2g.74378021G>TCA426813927DCTN1c.258C>A (p.Gly86=)
c.207C>A (p.Gly69=)
c.270C>A (p.Gly90=)
c.279C>A (p.Gly93=)
n.519C>A
n.298C>A
2g.74378022C>ACA347321590DCTN1c.257G>T (p.Gly86Val)
c.206G>T (p.Gly69Val)
c.269G>T (p.Gly90Val)
c.278G>T (p.Gly93Val)
n.518G>T
n.297G>T
2g.74378022C>GCA347321588DCTN1c.257G>C (p.Gly86Ala)
c.206G>C (p.Gly69Ala)
c.269G>C (p.Gly90Ala)
c.278G>C (p.Gly93Ala)
n.518G>C
n.297G>C
2g.74378022C>TCA347321585DCTN1c.257G>A (p.Gly86Asp)
c.206G>A (p.Gly69Asp)
c.269G>A (p.Gly90Asp)
c.278G>A (p.Gly93Asp)
n.518G>A
n.297G>A
2g.74378023C>ACA347321595DCTN1c.256G>T (p.Gly86Cys)
c.205G>T (p.Gly69Cys)
c.268G>T (p.Gly90Cys)
c.277G>T (p.Gly93Cys)
n.517G>T
n.296G>T
2g.74378023C>GCA347321593DCTN1c.256G>C (p.Gly86Arg)
c.205G>C (p.Gly69Arg)
c.268G>C (p.Gly90Arg)
c.277G>C (p.Gly93Arg)
n.517G>C
n.296G>C
2g.74378023C>TCA347321596DCTN1c.256G>A (p.Gly86Ser)
c.205G>A (p.Gly69Ser)
c.268G>A (p.Gly90Ser)
c.277G>A (p.Gly93Ser)
n.517G>A
n.296G>A
2g.74378024A>CCA347321600DCTN1c.255T>G (p.His85Gln)
c.204T>G (p.His68Gln)
c.267T>G (p.His89Gln)
c.276T>G (p.His92Gln)
n.516T>G
n.295T>G
2g.74378024A>GCA426813929DCTN1c.255T>C (p.His85=)
c.204T>C (p.His68=)
c.267T>C (p.His89=)
c.276T>C (p.His92=)
n.516T>C
n.295T>C
 gnomAD v4
2g.74378024A>TCA347321601DCTN1c.255T>A (p.His85Gln)
c.204T>A (p.His68Gln)
c.267T>A (p.His89Gln)
c.276T>A (p.His92Gln)
n.516T>A
n.295T>A
2g.74378025T>ACA347321603DCTN1c.254A>T (p.His85Leu)
c.203A>T (p.His68Leu)
c.266A>T (p.His89Leu)
c.275A>T (p.His92Leu)
n.515A>T
n.294A>T
2g.74378025T>CCA347321608DCTN1c.254A>G (p.His85Arg)
c.203A>G (p.His68Arg)
c.266A>G (p.His89Arg)
c.275A>G (p.His92Arg)
n.515A>G
n.294A>G
2g.74378025T>GCA347321605DCTN1c.254A>C (p.His85Pro)
c.203A>C (p.His68Pro)
c.266A>C (p.His89Pro)
c.275A>C (p.His92Pro)
n.515A>C
n.294A>C
2g.74378026G>ACA347321611DCTN1c.253C>T (p.His85Tyr)
c.202C>T (p.His68Tyr)
c.265C>T (p.His89Tyr)
c.274C>T (p.His92Tyr)
n.514C>T
n.293C>T
2g.74378026G>CCA347321617DCTN1c.253C>G (p.His85Asp)
c.202C>G (p.His68Asp)
c.265C>G (p.His89Asp)
c.274C>G (p.His92Asp)
n.514C>G
n.293C>G
2g.74378026G>TCA347321613DCTN1c.253C>A (p.His85Asn)
c.202C>A (p.His68Asn)
c.265C>A (p.His89Asn)
c.274C>A (p.His92Asn)
n.514C>A
n.293C>A
2g.74378027C>ACA426813930DCTN1c.252G>T (p.Gly84=)
c.201G>T (p.Gly67=)
c.264G>T (p.Gly88=)
c.273G>T (p.Gly91=)
n.513G>T
n.292G>T
2g.74378027C>GCA426813931DCTN1c.252G>C (p.Gly84=)
c.201G>C (p.Gly67=)
c.264G>C (p.Gly88=)
c.273G>C (p.Gly91=)
n.513G>C
n.292G>C
2g.74378027C>TCA426813932DCTN1c.252G>A (p.Gly84=)
c.201G>A (p.Gly67=)
c.264G>A (p.Gly88=)
c.273G>A (p.Gly91=)
n.513G>A
n.292G>A
2g.74378028C>ACA347321619DCTN1c.251G>T (p.Gly84Val)
c.200G>T (p.Gly67Val)
c.263G>T (p.Gly88Val)
c.272G>T (p.Gly91Val)
n.512G>T
n.291G>T
2g.74378028C>GCA347321623DCTN1c.251G>C (p.Gly84Ala)
c.200G>C (p.Gly67Ala)
c.263G>C (p.Gly88Ala)
c.272G>C (p.Gly91Ala)
n.512G>C
n.291G>C
2g.74378028C>TCA347321620DCTN1c.251G>A (p.Gly84Glu)
c.200G>A (p.Gly67Glu)
c.263G>A (p.Gly88Glu)
c.272G>A (p.Gly91Glu)
n.512G>A
n.291G>A
 gnomAD v4
2g.74378029C>ACA347321626DCTN1c.250G>T (p.Gly84Trp)
c.199G>T (p.Gly67Trp)
c.262G>T (p.Gly88Trp)
c.271G>T (p.Gly91Trp)
n.511G>T
n.290G>T
2g.74378029C>GCA347321630DCTN1c.250G>C (p.Gly84Arg)
c.199G>C (p.Gly67Arg)
c.262G>C (p.Gly88Arg)
c.271G>C (p.Gly91Arg)
n.511G>C
n.290G>C
2g.74378029C>TCA347321628DCTN1c.250G>A (p.Gly84Arg)
c.199G>A (p.Gly67Arg)
c.262G>A (p.Gly88Arg)
c.271G>A (p.Gly91Arg)
n.511G>A
n.290G>A
2g.74378030T>ACA347321633DCTN1c.249A>T (p.Glu83Asp)
c.198A>T (p.Glu66Asp)
c.261A>T (p.Glu87Asp)
c.270A>T (p.Glu90Asp)
n.510A>T
n.289A>T
2g.74378030T>CCA426813933DCTN1c.249A>G (p.Glu83=)
c.198A>G (p.Glu66=)
c.261A>G (p.Glu87=)
c.270A>G (p.Glu90=)
n.510A>G
n.289A>G
2g.74378030T>GCA347321636DCTN1c.249A>C (p.Glu83Asp)
c.198A>C (p.Glu66Asp)
c.261A>C (p.Glu87Asp)
c.270A>C (p.Glu90Asp)
n.510A>C
n.289A>C
2g.74378031T>ACA347321640DCTN1c.248A>T (p.Glu83Val)
c.197A>T (p.Glu66Val)
c.260A>T (p.Glu87Val)
c.269A>T (p.Glu90Val)
n.509A>T
n.288A>T
2g.74378031T>CCA347321647DCTN1c.248A>G (p.Glu83Gly)
c.197A>G (p.Glu66Gly)
c.260A>G (p.Glu87Gly)
c.269A>G (p.Glu90Gly)
n.509A>G
n.288A>G
2g.74378031T>GCA347321643DCTN1c.248A>C (p.Glu83Ala)
c.197A>C (p.Glu66Ala)
c.260A>C (p.Glu87Ala)
c.269A>C (p.Glu90Ala)
n.509A>C
n.288A>C
2g.74378032C>ACA347321650DCTN1c.247G>T (p.Glu83Ter)
c.196G>T (p.Glu66Ter)
c.259G>T (p.Glu87Ter)
c.268G>T (p.Glu90Ter)
n.508G>T
n.287G>T
2g.74378032C>GCA347321654DCTN1c.247G>C (p.Glu83Gln)
c.196G>C (p.Glu66Gln)
c.259G>C (p.Glu87Gln)
c.268G>C (p.Glu90Gln)
n.508G>C
n.287G>C
2g.74378032C>TCA347321652DCTN1c.247G>A (p.Glu83Lys)
c.196G>A (p.Glu66Lys)
c.259G>A (p.Glu87Lys)
c.268G>A (p.Glu90Lys)
n.508G>A
n.287G>A
 gnomAD v4
2g.74378033A=CA1261398938DCTN1c.246T= (p.Asp82=)
c.195T= (p.Asp65=)
c.258T= (p.Asp86=)
c.267T= (p.Asp89=)
n.507T=
n.286T=
2g.74378033A>CCA347321663DCTN1c.246T>G (p.Asp82Glu)
c.195T>G (p.Asp65Glu)
c.258T>G (p.Asp86Glu)
c.267T>G (p.Asp89Glu)
n.507T>G
n.286T>G
2g.74378033A>GCA426813939DCTN1c.246T>C (p.Asp82=)
c.195T>C (p.Asp65=)
c.258T>C (p.Asp86=)
c.267T>C (p.Asp89=)
n.507T>C
n.286T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74378033A>TCA347321665DCTN1c.246T>A (p.Asp82Glu)
c.195T>A (p.Asp65Glu)
c.258T>A (p.Asp86Glu)
c.267T>A (p.Asp89Glu)
n.507T>A
n.286T>A
2g.74378034T>ACA347321677DCTN1c.245A>T (p.Asp82Val)
c.194A>T (p.Asp65Val)
c.257A>T (p.Asp86Val)
c.266A>T (p.Asp89Val)
n.506A>T
n.285A>T
2g.74378034T>CCA347321679DCTN1c.245A>G (p.Asp82Gly)
c.194A>G (p.Asp65Gly)
c.257A>G (p.Asp86Gly)
c.266A>G (p.Asp89Gly)
n.506A>G
n.285A>G
2g.74378034T>GCA347321683DCTN1c.245A>C (p.Asp82Ala)
c.194A>C (p.Asp65Ala)
c.257A>C (p.Asp86Ala)
c.266A>C (p.Asp89Ala)
n.506A>C
n.285A>C
2g.74378035C>ACA347321688DCTN1c.244G>T (p.Asp82Tyr)
c.193G>T (p.Asp65Tyr)
c.256G>T (p.Asp86Tyr)
c.265G>T (p.Asp89Tyr)
n.505G>T
n.284G>T
2g.74378035C>GCA347321693DCTN1c.244G>C (p.Asp82His)
c.193G>C (p.Asp65His)
c.256G>C (p.Asp86His)
c.265G>C (p.Asp89His)
n.505G>C
n.284G>C
2g.74378035C>TCA347321695DCTN1c.244G>A (p.Asp82Asn)
c.193G>A (p.Asp65Asn)
c.256G>A (p.Asp86Asn)
c.265G>A (p.Asp89Asn)
n.505G>A
n.284G>A
2g.74378036A>CCA347321698DCTN1c.243T>G (p.Cys81Trp)
c.192T>G (p.Cys64Trp)
c.255T>G (p.Cys85Trp)
c.264T>G (p.Cys88Trp)
n.504T>G
n.283T>G
2g.74378036A>GCA426813941DCTN1c.243T>C (p.Cys81=)
c.192T>C (p.Cys64=)
c.255T>C (p.Cys85=)
c.264T>C (p.Cys88=)
n.504T>C
n.283T>C
2g.74378036A>TCA347321699DCTN1c.243T>A (p.Cys81Ter)
c.192T>A (p.Cys64Ter)
c.255T>A (p.Cys85Ter)
c.264T>A (p.Cys88Ter)
n.504T>A
n.283T>A
2g.74378037C>ACA347321707DCTN1c.242G>T (p.Cys81Phe)
c.191G>T (p.Cys64Phe)
c.254G>T (p.Cys85Phe)
c.263G>T (p.Cys88Phe)
n.503G>T
n.282G>T
2g.74378037C>GCA347321704DCTN1c.242G>C (p.Cys81Ser)
c.191G>C (p.Cys64Ser)
c.254G>C (p.Cys85Ser)
c.263G>C (p.Cys88Ser)
n.503G>C
n.282G>C
2g.74378037C>TCA347321703DCTN1c.242G>A (p.Cys81Tyr)
c.191G>A (p.Cys64Tyr)
c.254G>A (p.Cys85Tyr)
c.263G>A (p.Cys88Tyr)
n.503G>A
n.282G>A
2g.74378038A>CCA347321710DCTN1c.241T>G (p.Cys81Gly)
c.190T>G (p.Cys64Gly)
c.253T>G (p.Cys85Gly)
c.262T>G (p.Cys88Gly)
n.502T>G
n.281T>G
2g.74378038A>GCA347321712DCTN1c.241T>C (p.Cys81Arg)
c.190T>C (p.Cys64Arg)
c.253T>C (p.Cys85Arg)
c.262T>C (p.Cys88Arg)
n.502T>C
n.281T>C
2g.74378038A>TCA347321715DCTN1c.241T>A (p.Cys81Ser)
c.190T>A (p.Cys64Ser)
c.253T>A (p.Cys85Ser)
c.262T>A (p.Cys88Ser)
n.502T>A
n.281T>A
2g.74378042_74378046delCA2659677635DCTN1c.237_241del (p.Phe79LeufsTer2)
c.186_190del (p.Phe62LeufsTer2)
c.249_253del (p.Phe83LeufsTer2)
c.186_190del (p.Phe62LeufsTer?)
c.258_262del (p.Phe86LeufsTer2)
n.498_502del
n.277_281del
 gnomAD v4
2g.74378039A=CA1261398939DCTN1c.240T= (p.Thr80=)
c.189T= (p.Thr63=)
c.252T= (p.Thr84=)
c.261T= (p.Thr87=)
n.501T=
n.280T=
2g.74378039A>CCA426813947DCTN1c.240T>G (p.Thr80=)
c.189T>G (p.Thr63=)
c.252T>G (p.Thr84=)
c.261T>G (p.Thr87=)
n.501T>G
n.280T>G
2g.74378039A>GCA426813948DCTN1c.240T>C (p.Thr80=)
c.189T>C (p.Thr63=)
c.252T>C (p.Thr84=)
c.261T>C (p.Thr87=)
n.501T>C
n.280T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74378039A>TCA426813949DCTN1c.240T>A (p.Thr80=)
c.189T>A (p.Thr63=)
c.252T>A (p.Thr84=)
c.261T>A (p.Thr87=)
n.501T>A
n.280T>A
2g.74378040G>ACA347321726DCTN1c.239C>T (p.Thr80Ile)
c.188C>T (p.Thr63Ile)
c.251C>T (p.Thr84Ile)
c.260C>T (p.Thr87Ile)
n.500C>T
n.279C>T
 dbSNP
2g.74378040G>CCA347321728DCTN1c.239C>G (p.Thr80Ser)
c.188C>G (p.Thr63Ser)
c.251C>G (p.Thr84Ser)
c.260C>G (p.Thr87Ser)
n.500C>G
n.279C>G
 gnomAD v4
2g.74378040G=CA1261398940DCTN1c.239C= (p.Thr80=)
c.188C= (p.Thr63=)
c.251C= (p.Thr84=)
c.260C= (p.Thr87=)
n.500C=
n.279C=
2g.74378040G>TCA347321730DCTN1c.239C>A (p.Thr80Asn)
c.188C>A (p.Thr63Asn)
c.251C>A (p.Thr84Asn)
c.260C>A (p.Thr87Asn)
n.500C>A
n.279C>A
2g.74378041T>ACA347321736DCTN1c.238A>T (p.Thr80Ser)
c.187A>T (p.Thr63Ser)
c.250A>T (p.Thr84Ser)
c.259A>T (p.Thr87Ser)
n.499A>T
n.278A>T
 gnomAD v4
2g.74378041T>CCA347321741DCTN1c.238A>G (p.Thr80Ala)
c.187A>G (p.Thr63Ala)
c.250A>G (p.Thr84Ala)
c.259A>G (p.Thr87Ala)
n.499A>G
n.278A>G
 gnomAD v4
2g.74378041T>GCA347321744DCTN1c.238A>C (p.Thr80Pro)
c.187A>C (p.Thr63Pro)
c.250A>C (p.Thr84Pro)
c.259A>C (p.Thr87Pro)
n.499A>C
n.278A>C
 gnomAD v4
2g.74378042G>ACA426813950DCTN1c.237C>T (p.Phe79=)
c.186C>T (p.Phe62=)
c.249C>T (p.Phe83=)
c.258C>T (p.Phe86=)
n.498C>T
n.277C>T
2g.74378042G>CCA347321746DCTN1c.237C>G (p.Phe79Leu)
c.186C>G (p.Phe62Leu)
c.249C>G (p.Phe83Leu)
c.258C>G (p.Phe86Leu)
n.498C>G
n.277C>G
2g.74378042G>TCA347321748DCTN1c.237C>A (p.Phe79Leu)
c.186C>A (p.Phe62Leu)
c.249C>A (p.Phe83Leu)
c.258C>A (p.Phe86Leu)
n.498C>A
n.277C>A
2g.74378043A>CCA347321757DCTN1c.236T>G (p.Phe79Cys)
c.185T>G (p.Phe62Cys)
c.248T>G (p.Phe83Cys)
c.257T>G (p.Phe86Cys)
n.497T>G
n.276T>G
2g.74378043A>GCA347321754DCTN1c.236T>C (p.Phe79Ser)
c.185T>C (p.Phe62Ser)
c.248T>C (p.Phe83Ser)
c.257T>C (p.Phe86Ser)
n.497T>C
n.276T>C
2g.74378043A>TCA347321751DCTN1c.236T>A (p.Phe79Tyr)
c.185T>A (p.Phe62Tyr)
c.248T>A (p.Phe83Tyr)
c.257T>A (p.Phe86Tyr)
n.497T>A
n.276T>A
2g.74378044A>CCA347321764DCTN1c.235T>G (p.Phe79Val)
c.184T>G (p.Phe62Val)
c.247T>G (p.Phe83Val)
c.256T>G (p.Phe86Val)
n.496T>G
n.275T>G
2g.74378044A>GCA347321769DCTN1c.235T>C (p.Phe79Leu)
c.184T>C (p.Phe62Leu)
c.247T>C (p.Phe83Leu)
c.256T>C (p.Phe86Leu)
n.496T>C
n.275T>C
2g.74378044A>TCA347321771DCTN1c.235T>A (p.Phe79Ile)
c.184T>A (p.Phe62Ile)
c.247T>A (p.Phe83Ile)
c.256T>A (p.Phe86Ile)
n.496T>A
n.275T>A
2g.74378045G>ACA426813955DCTN1c.234C>T (p.Tyr78=)
c.183C>T (p.Tyr61=)
c.246C>T (p.Tyr82=)
c.255C>T (p.Tyr85=)
n.495C>T
n.274C>T
2g.74378045G>CCA347321776DCTN1c.234C>G (p.Tyr78Ter)
c.183C>G (p.Tyr61Ter)
c.246C>G (p.Tyr82Ter)
c.255C>G (p.Tyr85Ter)
n.495C>G
n.274C>G
2g.74378045G>TCA347321785DCTN1c.234C>A (p.Tyr78Ter)
c.183C>A (p.Tyr61Ter)
c.246C>A (p.Tyr82Ter)
c.255C>A (p.Tyr85Ter)
n.495C>A
n.274C>A
2g.74378046T>ACA347321788DCTN1c.233A>T (p.Tyr78Phe)
c.182A>T (p.Tyr61Phe)
c.245A>T (p.Tyr82Phe)
c.254A>T (p.Tyr85Phe)
n.494A>T
n.273A>T
2g.74378046T>CCA10588001DCTN1c.233A>G (p.Tyr78Cys)
c.182A>G (p.Tyr61Cys)
c.245A>G (p.Tyr82Cys)
c.254A>G (p.Tyr85Cys)
n.494A>G
n.273A>G
 ClinVar dbSNP
2g.74378046T>GCA347321794DCTN1c.233A>C (p.Tyr78Ser)
c.182A>C (p.Tyr61Ser)
c.245A>C (p.Tyr82Ser)
c.254A>C (p.Tyr85Ser)
n.494A>C
n.273A>C
2g.74378046T=CA1261398941DCTN1c.233A= (p.Tyr78=)
c.182A= (p.Tyr61=)
c.245A= (p.Tyr82=)
c.254A= (p.Tyr85=)
n.494A=
n.273A=
2g.74378047A=CA1261398942DCTN1c.232T= (p.Tyr78=)
c.181T= (p.Tyr61=)
c.244T= (p.Tyr82=)
c.253T= (p.Tyr85=)
n.493T=
n.272T=
2g.74378047A>CCA347321796DCTN1c.232T>G (p.Tyr78Asp)
c.181T>G (p.Tyr61Asp)
c.244T>G (p.Tyr82Asp)
c.253T>G (p.Tyr85Asp)
n.493T>G
n.272T>G
2g.74378047A>GCA347321804DCTN1c.232T>C (p.Tyr78His)
c.181T>C (p.Tyr61His)
c.244T>C (p.Tyr82His)
c.253T>C (p.Tyr85His)
n.493T>C
n.272T>C
 ClinVar dbSNP
2g.74378047A>TCA347321807DCTN1c.232T>A (p.Tyr78Asn)
c.181T>A (p.Tyr61Asn)
c.244T>A (p.Tyr82Asn)
c.253T>A (p.Tyr85Asn)
n.493T>A
n.272T>A
2g.74378048C>ACA347321809DCTN1c.231G>T (p.Lys77Asn)
c.180G>T (p.Lys60Asn)
c.243G>T (p.Lys81Asn)
c.252G>T (p.Lys84Asn)
n.492G>T
n.271G>T
2g.74378048C=CA1261398943DCTN1c.231G= (p.Lys77=)
c.180G= (p.Lys60=)
c.243G= (p.Lys81=)
c.252G= (p.Lys84=)
n.492G=
n.271G=
2g.74378048C>GCA347321811DCTN1c.231G>C (p.Lys77Asn)
c.180G>C (p.Lys60Asn)
c.243G>C (p.Lys81Asn)
c.252G>C (p.Lys84Asn)
n.492G>C
n.271G>C
2g.74378048C>TCA426813960DCTN1c.231G>A (p.Lys77=)
c.180G>A (p.Lys60=)
c.243G>A (p.Lys81=)
c.252G>A (p.Lys84=)
n.492G>A
n.271G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.74378049T>ACA347321813DCTN1c.230A>T (p.Lys77Met)
c.179A>T (p.Lys60Met)
c.242A>T (p.Lys81Met)
c.251A>T (p.Lys84Met)
n.491A>T
n.270A>T
2g.74378049T>CCA1722589DCTN1c.230A>G (p.Lys77Arg)
c.179A>G (p.Lys60Arg)
c.242A>G (p.Lys81Arg)
c.251A>G (p.Lys84Arg)
n.491A>G
n.270A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.74378049T>GCA347321825DCTN1c.230A>C (p.Lys77Thr)
c.179A>C (p.Lys60Thr)
c.242A>C (p.Lys81Thr)
c.251A>C (p.Lys84Thr)
n.491A>C
n.270A>C
2g.74378049T=CA1261398944DCTN1c.230A= (p.Lys77=)
c.179A= (p.Lys60=)
c.242A= (p.Lys81=)
c.251A= (p.Lys84=)
n.491A=
n.270A=
2g.74378050T>ACA347321828DCTN1c.229A>T (p.Lys77Ter)
c.178A>T (p.Lys60Ter)
c.241A>T (p.Lys81Ter)
c.250A>T (p.Lys84Ter)
n.490A>T
n.269A>T
2g.74378050T>CCA347321830DCTN1c.229A>G (p.Lys77Glu)
c.178A>G (p.Lys60Glu)
c.241A>G (p.Lys81Glu)
c.250A>G (p.Lys84Glu)
n.490A>G
n.269A>G
2g.74378050T>GCA347321832DCTN1c.229A>C (p.Lys77Gln)
c.178A>C (p.Lys60Gln)
c.241A>C (p.Lys81Gln)
c.250A>C (p.Lys84Gln)
n.490A>C
n.269A>C
2g.74378051C>ACA347321835DCTN1c.228G>T (p.Arg76Ser)
c.177G>T (p.Arg59Ser)
c.240G>T (p.Arg80Ser)
c.249G>T (p.Arg83Ser)
n.489G>T
n.268G>T
2g.74378051C=CA1261398945DCTN1c.228G= (p.Arg76=)
c.177G= (p.Arg59=)
c.240G= (p.Arg80=)
c.249G= (p.Arg83=)
n.489G=
n.268G=
2g.74378051C>GCA347321844DCTN1c.228G>C (p.Arg76Ser)
c.177G>C (p.Arg59Ser)
c.240G>C (p.Arg80Ser)
c.249G>C (p.Arg83Ser)
n.489G>C
n.268G>C
2g.74378051C>TCA426813965DCTN1c.228G>A (p.Arg76=)
c.177G>A (p.Arg59=)
c.240G>A (p.Arg80=)
c.249G>A (p.Arg83=)
n.489G>A
n.268G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.74378052C>ACA347321847DCTN1c.227G>T (p.Arg76Met)
c.176G>T (p.Arg59Met)
c.239G>T (p.Arg80Met)
c.248G>T (p.Arg83Met)
n.488G>T
n.267G>T
2g.74378052C=CA1261398946DCTN1c.227G= (p.Arg76=)
c.176G= (p.Arg59=)
c.239G= (p.Arg80=)
c.248G= (p.Arg83=)
n.488G=
n.267G=
2g.74378052C>GCA1722590DCTN1c.227G>C (p.Arg76Thr)
c.176G>C (p.Arg59Thr)
c.239G>C (p.Arg80Thr)
c.248G>C (p.Arg83Thr)
n.488G>C
n.267G>C
 dbSNP ExAC gnomAD v2
2g.74378052C>TCA347321855DCTN1c.227G>A (p.Arg76Lys)
c.176G>A (p.Arg59Lys)
c.239G>A (p.Arg80Lys)
c.248G>A (p.Arg83Lys)
n.488G>A
n.267G>A
2g.74378053T>ACA347321869DCTN1c.226A>T (p.Arg76Trp)
c.175A>T (p.Arg59Trp)
c.238A>T (p.Arg80Trp)
c.247A>T (p.Arg83Trp)
n.487A>T
n.266A>T
2g.74378053T>CCA347321870DCTN1c.226A>G (p.Arg76Gly)
c.175A>G (p.Arg59Gly)
c.238A>G (p.Arg80Gly)
c.247A>G (p.Arg83Gly)
n.487A>G
n.266A>G
 dbSNP
2g.74378053T>GCA426813970DCTN1c.226A>C (p.Arg76=)
c.175A>C (p.Arg59=)
c.238A>C (p.Arg80=)
c.247A>C (p.Arg83=)
n.487A>C
n.266A>C
2g.74378053T=CA1261398947DCTN1c.226A= (p.Arg76=)
c.175A= (p.Arg59=)
c.238A= (p.Arg80=)
c.247A= (p.Arg83=)
n.487A=
n.266A=
2g.74378054G>ACA426813972DCTN1c.225C>T (p.Gly75=)
c.174C>T (p.Gly58=)
c.237C>T (p.Gly79=)
c.246C>T (p.Gly82=)
n.486C>T
n.265C>T
2g.74378054G>CCA426813973DCTN1c.225C>G (p.Gly75=)
c.174C>G (p.Gly58=)
c.237C>G (p.Gly79=)
c.246C>G (p.Gly82=)
n.486C>G
n.265C>G
2g.74378054G>TCA426813974DCTN1c.225C>A (p.Gly75=)
c.174C>A (p.Gly58=)
c.237C>A (p.Gly79=)
c.246C>A (p.Gly82=)
n.486C>A
n.265C>A
2g.74378055C>ACA347321873DCTN1c.224G>T (p.Gly75Val)
c.173G>T (p.Gly58Val)
c.236G>T (p.Gly79Val)
c.245G>T (p.Gly82Val)
n.485G>T
n.264G>T
2g.74378055C>GCA347321872DCTN1c.224G>C (p.Gly75Ala)
c.173G>C (p.Gly58Ala)
c.236G>C (p.Gly79Ala)
c.245G>C (p.Gly82Ala)
n.485G>C
n.264G>C
2g.74378055C>TCA347321871DCTN1c.224G>A (p.Gly75Asp)
c.173G>A (p.Gly58Asp)
c.236G>A (p.Gly79Asp)
c.245G>A (p.Gly82Asp)
n.485G>A
n.264G>A
2g.74378056C>ACA347321874DCTN1c.223G>T (p.Gly75Cys)
c.172G>T (p.Gly58Cys)
c.235G>T (p.Gly79Cys)
c.244G>T (p.Gly82Cys)
n.484G>T
n.263G>T
2g.74378056C>GCA347321893DCTN1c.223G>C (p.Gly75Arg)
c.172G>C (p.Gly58Arg)
c.235G>C (p.Gly79Arg)
c.244G>C (p.Gly82Arg)
n.484G>C
n.263G>C
2g.74378056C>TCA347321890DCTN1c.223G>A (p.Gly75Ser)
c.172G>A (p.Gly58Ser)
c.235G>A (p.Gly79Ser)
c.244G>A (p.Gly82Ser)
n.484G>A
n.263G>A
 ClinVar dbSNP
2g.74378057T>ACA347321900DCTN1c.222A>T (p.Gln74His)
c.171A>T (p.Gln57His)
c.234A>T (p.Gln78His)
c.243A>T (p.Gln81His)
n.483A>T
n.262A>T
2g.74378057T>CCA426813979DCTN1c.222A>G (p.Gln74=)
c.171A>G (p.Gln57=)
c.234A>G (p.Gln78=)
c.243A>G (p.Gln81=)
n.483A>G
n.262A>G
2g.74378057T>GCA347321901DCTN1c.222A>C (p.Gln74His)
c.171A>C (p.Gln57His)
c.234A>C (p.Gln78His)
c.243A>C (p.Gln81His)
n.483A>C
n.262A>C
2g.74378058T>ACA347321903DCTN1c.221A>T (p.Gln74Leu)
c.170A>T (p.Gln57Leu)
c.233A>T (p.Gln78Leu)
c.242A>T (p.Gln81Leu)
n.482A>T
n.261A>T
2g.74378058T>CCA1722591DCTN1c.221A>G (p.Gln74Arg)
c.170A>G (p.Gln57Arg)
c.233A>G (p.Gln78Arg)
c.242A>G (p.Gln81Arg)
n.482A>G
n.261A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.74378058T>GCA340783DCTN1c.221A>C (p.Gln74Pro)
c.170A>C (p.Gln57Pro)
c.233A>C (p.Gln78Pro)
c.242A>C (p.Gln81Pro)
n.482A>C
n.261A>C
 ClinVar dbSNP
2g.74378058T=CA1261398948DCTN1c.221A= (p.Gln74=)
c.170A= (p.Gln57=)
c.233A= (p.Gln78=)
c.242A= (p.Gln81=)
n.482A=
n.261A=
2g.74378059G>ACA347321913DCTN1c.220C>T (p.Gln74Ter)
c.169C>T (p.Gln57Ter)
c.232C>T (p.Gln78Ter)
c.241C>T (p.Gln81Ter)
n.481C>T
n.260C>T
2g.74378059G>CCA347321921DCTN1c.220C>G (p.Gln74Glu)
c.169C>G (p.Gln57Glu)
c.232C>G (p.Gln78Glu)
c.241C>G (p.Gln81Glu)
n.481C>G
n.260C>G
2g.74378059G>TCA347321922DCTN1c.220C>A (p.Gln74Lys)
c.169C>A (p.Gln57Lys)
c.232C>A (p.Gln78Lys)
c.241C>A (p.Gln81Lys)
n.481C>A
n.260C>A
2g.74378060A>CCA426813981DCTN1c.219T>G (p.Val73=)
c.168T>G (p.Val56=)
c.231T>G (p.Val77=)
c.240T>G (p.Val80=)
n.480T>G
n.259T>G
 gnomAD v4
2g.74378060A>GCA426813982DCTN1c.219T>C (p.Val73=)
c.168T>C (p.Val56=)
c.231T>C (p.Val77=)
c.240T>C (p.Val80=)
n.480T>C
n.259T>C
2g.74378060A>TCA426813983DCTN1c.219T>A (p.Val73=)
c.168T>A (p.Val56=)
c.231T>A (p.Val77=)
c.240T>A (p.Val80=)
n.480T>A
n.259T>A
2g.74378061A>CCA347321924DCTN1c.218T>G (p.Val73Gly)
c.167T>G (p.Val56Gly)
c.230T>G (p.Val77Gly)
c.239T>G (p.Val80Gly)
n.479T>G
n.258T>G
2g.74378061A>GCA347321926DCTN1c.218T>C (p.Val73Ala)
c.167T>C (p.Val56Ala)
c.230T>C (p.Val77Ala)
c.239T>C (p.Val80Ala)
n.479T>C
n.258T>C
2g.74378061A>TCA347321931DCTN1c.218T>A (p.Val73Asp)
c.167T>A (p.Val56Asp)
c.230T>A (p.Val77Asp)
c.239T>A (p.Val80Asp)
n.479T>A
n.258T>A
2g.74378062C>ACA347321941DCTN1c.217G>T (p.Val73Phe)
c.166G>T (p.Val56Phe)
c.229G>T (p.Val77Phe)
c.238G>T (p.Val80Phe)
n.478G>T
n.257G>T
2g.74378062C>GCA347321936DCTN1c.217G>C (p.Val73Leu)
c.166G>C (p.Val56Leu)
c.229G>C (p.Val77Leu)
c.238G>C (p.Val80Leu)
n.478G>C
n.257G>C
2g.74378062C>TCA347321938DCTN1c.217G>A (p.Val73Ile)
c.166G>A (p.Val56Ile)
c.229G>A (p.Val77Ile)
c.238G>A (p.Val80Ile)
n.478G>A
n.257G>A
2g.74378063A=CA1261398949DCTN1c.216T= (p.Thr72=)
c.165T= (p.Thr55=)
c.228T= (p.Thr76=)
c.237T= (p.Thr79=)
n.477T=
n.256T=
2g.74378063A>CCA426813991DCTN1c.216T>G (p.Thr72=)
c.165T>G (p.Thr55=)
c.228T>G (p.Thr76=)
c.237T>G (p.Thr79=)
n.477T>G
n.256T>G
2g.74378063A>GCA426813989DCTN1c.216T>C (p.Thr72=)
c.165T>C (p.Thr55=)
c.228T>C (p.Thr76=)
c.237T>C (p.Thr79=)
n.477T>C
n.256T>C
 dbSNP gnomAD v3 gnomAD v4
2g.74378063A>TCA426813990DCTN1c.216T>A (p.Thr72=)
c.165T>A (p.Thr55=)
c.228T>A (p.Thr76=)
c.237T>A (p.Thr79=)
n.477T>A
n.256T>A
2g.74378064G>ACA347321943DCTN1c.215C>T (p.Thr72Ile)
c.164C>T (p.Thr55Ile)
c.227C>T (p.Thr76Ile)
c.236C>T (p.Thr79Ile)
n.476C>T
n.255C>T
2g.74378064G>CCA347321944DCTN1c.215C>G (p.Thr72Ser)
c.164C>G (p.Thr55Ser)
c.227C>G (p.Thr76Ser)
c.236C>G (p.Thr79Ser)
n.476C>G
n.255C>G
2g.74378064G>TCA347321945DCTN1c.215C>A (p.Thr72Asn)
c.164C>A (p.Thr55Asn)
c.227C>A (p.Thr76Asn)
c.236C>A (p.Thr79Asn)
n.476C>A
n.255C>A
2g.74378065T>ACA347321947DCTN1c.214A>T (p.Thr72Ser)
c.163A>T (p.Thr55Ser)
c.226A>T (p.Thr76Ser)
c.235A>T (p.Thr79Ser)
n.475A>T
n.254A>T
2g.74378065T>CCA347321951DCTN1c.214A>G (p.Thr72Ala)
c.163A>G (p.Thr55Ala)
c.226A>G (p.Thr76Ala)
c.235A>G (p.Thr79Ala)
n.475A>G
n.254A>G
2g.74378065T>GCA342009DCTN1c.214A>C (p.Thr72Pro)
c.163A>C (p.Thr55Pro)
c.226A>C (p.Thr76Pro)
c.235A>C (p.Thr79Pro)
n.475A>C
n.254A>C
 ClinVar dbSNP
2g.74378065T=CA1261398950DCTN1c.214A= (p.Thr72=)
c.163A= (p.Thr55=)
c.226A= (p.Thr76=)
c.235A= (p.Thr79=)
n.475A=
n.254A=
2g.74378066T>ACA426813995DCTN1c.213A>T (p.Gly71=)
c.162A>T (p.Gly54=)
c.225A>T (p.Gly75=)
c.234A>T (p.Gly78=)
n.474A>T
n.253A>T
2g.74378066T>CCA426813997DCTN1c.213A>G (p.Gly71=)
c.162A>G (p.Gly54=)
c.225A>G (p.Gly75=)
c.234A>G (p.Gly78=)
n.474A>G
n.253A>G
2g.74378066T>GCA1722592DCTN1c.213A>C (p.Gly71=)
c.162A>C (p.Gly54=)
c.225A>C (p.Gly75=)
c.234A>C (p.Gly78=)
n.474A>C
n.253A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.74378066T=CA1261398951DCTN1c.213A= (p.Gly71=)
c.162A= (p.Gly54=)
c.225A= (p.Gly75=)
c.234A= (p.Gly78=)
n.474A=
n.253A=
2g.74378067C>ACA347321961DCTN1c.212G>T (p.Gly71Val)
c.161G>T (p.Gly54Val)
c.224G>T (p.Gly75Val)
c.233G>T (p.Gly78Val)
n.473G>T
n.252G>T
2g.74378067C=CA1261398952DCTN1c.212G= (p.Gly71=)
c.161G= (p.Gly54=)
c.224G= (p.Gly75=)
c.233G= (p.Gly78=)
n.473G=
n.252G=
2g.74378067C>GCA342008DCTN1c.212G>C (p.Gly71Ala)
c.161G>C (p.Gly54Ala)
c.224G>C (p.Gly75Ala)
c.233G>C (p.Gly78Ala)
n.473G>C
n.252G>C
 ClinVar dbSNP
2g.74378067C>TCA342007DCTN1c.212G>A (p.Gly71Glu)
c.161G>A (p.Gly54Glu)
c.224G>A (p.Gly75Glu)
c.233G>A (p.Gly78Glu)
n.473G>A
n.252G>A
 ClinVar dbSNP

Number of alleles fetched